FLNB c.1088G>C ;(p.G363A)

Variant ID: 3-58083645-G-C

NM_001457.3(FLNB):c.1088G>C;(p.G363A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

American Journal Of Human Genetics
Hermanns, Pia P; Unger, Sheila S; Rossi, Antonio A; Perez-Aytes, Antonio A; Cortina, Hector H; Bonafé, Luisa L; Boccone, Loredana L; Setzu, Valeria V; Dutoit, Michel M; Sangiorgi, Luca L; Pecora, Fabio F; Reicherter, Kerstin K; Nishimura, Gen G; Spranger, Jürgen J; Zabel, Bernhard B; Superti-Furga, Andrea A
Publication Date: 2008-06

Variant appearance in text: FLNB: G363A
PubMed Link: 18513679
Variant Present in the following documents:
  • Main text
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